Canonical Allele Identifier: CA243451913

Gene: MVK MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573438G>A , CM000674.2:g.109573438G>A	GRCh38
NC_000012.11:g.110011243G>A , CM000674.1:g.110011243G>A	GRCh37
NC_000012.10:g.108495626G>A	NCBI36
NG_007096.1:g.5060C>T
NG_007702.1:g.4744G>A , LRG_156:g.4744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546277.6:c.-148G>A (MVK)	ENSP00000438153.2:n.-148G>A
ENST00000545712.7:c.43C>T (MMAB) MANE Select	ENSP00000445920.1:p.Arg15Cys
ENST00000420167.6:c.43C>T (MMAB)	ENSP00000416136.2:p.Arg15Cys
ENST00000503497.7:c.43C>T (MMAB)	ENSP00000474881.1:p.Arg15Cys
ENST00000535044.1:n.98G>A (MVK)
ENST00000536760.1:n.46C>T (MMAB)
ENST00000537236.2:c.43C>T (MMAB)	ENSP00000483818.1:p.Arg15Cys
ENST00000537496.5:c.43C>T (MMAB)	ENSP00000444793.1:p.Arg15Cys
ENST00000539335.5:c.-139G>A (MVK)	ENSP00000440379.1:n.-139G>A
ENST00000540016.5:c.43C>T (MMAB)	ENSP00000474582.1:p.Arg15Cys
ENST00000541763.6:c.43C>T (MMAB)	ENSP00000474981.1:p.Arg15Cys
ENST00000542390.5:n.70C>T (MMAB)
ENST00000544051.5:c.43C>T (MMAB)	ENSP00000438079.1:p.Arg15Cys
ENST00000545712.6:c.43C>T (MMAB)	ENSP00000445920.1:p.Arg15Cys
ENST00000546277.5:c.-148G>A (MVK)	ENSP00000438153.1:n.-148G>A
NM_052845.3:c.43C>T (MMAB)	NP_443077.1:p.Arg15Cys
NR_038118.1:n.116C>T (MMAB)
XM_011538372.1:c.-148G>A (MVK)	XP_011536674.1:n.-148G>A
XM_024448961.1:c.43C>T (MMAB)	XP_024304729.1:p.Arg15Cys
NM_052845.4:c.43C>T (MMAB) MANE Select	NP_443077.1:p.Arg15Cys
NR_038118.2:n.67C>T (MMAB)